TIME Autism

Siblings With Autism Less Similar Than Previously Thought, Study Says

Surprising study has implications for care

The majority of siblings diagnosed with autism do not share the same genetic mutation, according to a new study.

Using whole-genome sequencing technology, scientists looked at the genetic material of 85 families that had two children diagnosed with autism, the New York Times reports. Of those sibling pairs, about 30% shared the same genetic glitch, while roughly 70% did not. Those who shared the same genetic issue had similar habits compared to those who didn’t.

“We anticipated that, more often than not, there would be shared inheritance” said Dr. Stephen Scherer, professor of medicine at the University of Toronto and the project’s research director. “That wasn’t the case.”

Some experts say the study, which appears in the journal Nature Medicine, will likely lead to changes in hospitals, whose staff sometimes study the oldest child with autism to gain insight into the younger child’s diagnosis. Hospitals also use genetic profiles to advise parents about the likelihood of having another child with the same diagnosis.

“This study makes us step back and realize we’re not necessarily going to get as much predictive value out of genetic mapping as we thought,” Helen Tager-Flusberg, a Boston University developmental neuroscientist who didn’t work on the study, told the Times.

[NYT]

TIME Developmental Disorders

Parents May Be Able to Lower Kids’ Autism Risk

Boy (7-9), rear view, close-up
Sean Justice—Getty Images

With the help of videos and trained therapists, parents of at-risk kids may eventually help their toddlers to avoid an autism diagnosis

Autism experts still disagree over a lot of things about the developmental disorder, but there is one idea that unites most of them — that the earlier the condition can be diagnosed, and the sooner interventions, from medications to behavioral therapies, can be tried, the more likely that child will be to develop normally.

The latest research, published Wednesday in the journal Lancet Psychiatry, pushes this idea even further by intervening with one of the youngest group of babies yet — those who are 7 months to 10 months old. Jonathan Green from the University of Manchester, in England, and his colleagues say that teaching parents to get more in tune with the signals coming from infants who are at high risk of developing autism can change their babies’ behavior and shift them toward a pattern of more normal development.

MORE: Autism Symptoms Disappeared With Behavioral Therapy in Babies

The scientists focused on a group of 54 families with at least one autistic child. About 20% of siblings of autistic children end up developing the disorder themselves, so Green and his team randomly assigned parents of these babies to either receive a new parent-training program or to get no additional intervention at all. While previous studies have also looked at such parenting programs, most have focused on toddlers once they have been diagnosed with autism, which generally occurs around age 3.

During the training sessions, which occurred over five months, a therapist visited the home and videotaped parents interacting with their infants and then analyzed the behaviors. Rather than assuming the babies would make sounds or fidget if they wanted something, parents were asked to pay close attention to the signs their infants were providing, and find ways to recognize and respond to them so the babies would be more likely to engage and interact with their parents rather than turn away. After at least six such sessions, the infants of parents who did this showed improvements in their ability to pay attention, as well as better flexibility in shifting their attention from one object to another. Presumably the plasticity, or flexibility of the developing brain, especially in the first year of life, is making it possible to redirect some of the processes that may be veering toward autism.

MORE: How Brain Waves May Be the Clue to Diagnosing Autism

“Taken together, we think all of these improvements across different areas of measurement suggest that we improved risk markers for autism at this age,” Green said during a news conference discussing the findings. “Therefore logically we can say that we potentially lowered the risk of later autism development in these infants. At this point we think the results are promising.”

He stressed that the babies have not been tested yet for autism, which will occur when they are around 3 years old, but that the changes he and his team saw strongly suggest that the path to autism may have been interrupted, or at least suppressed in some way. “What we hope is to eventually demonstrate that by changing something critical in the environment, that we can push the organic brain-development process, the neurocognitive process, back on a typical trajectory,” says Tony Charman, a professor of psychology at King’s College London and one of the co-authors. “That’s the theoretical hope.”

MORE: Major Autism Studies Identify Dozens of Contributing Genes

The findings aren’t the first to show that intervening at such an early age with high-risk babies can potentially lower their chances of developing autism. In 2014, researchers at the University of California, Davis, tested an intensive parenting model in which parents engaged in intensive, focused play with their infants who were 6 months old, and achieved similarly encouraging results. In that study, the infants even showed brain changes that suggested their cognitive processes were normalizing to look more like those of children unaffected by autism. In Green’s study, they also saw evidence that the infants’ ability to shift attention improved after the parenting sessions to look more like those at low risk of developing autism.

MORE: Behavior Therapy Normalizes Brains of Autistic Children

Green said that the findings need to be repeated with dozens more families, but he’s encouraged by the initial success. “These parents need to have enhanced skills to deal with some of the biological vulnerability they are faced with in their children,” he said. “There are great advantages to parent-mediated interventions of this kind; once the parents are skilled up in this way, the therapy can go on 24-7 at home. It’s important to intervene throughout childhood.”

TIME Mental Health/Psychology

This May Explain the Rise in Autism Diagnoses

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Getty Images

A new study suggests changes in diagnostic rules have caused increases in autism cases

The number of children diagnosed with autism has ballooned in recent years, but the reason for the increase is hotly debated. Some argue autism results when rare gene mutations are triggered by environmental factors like pollution, certain chemicals or even parental age. Others say it’s due to the fact that we’ve simply gotten much better at diagnosing it. Now, a large new study published in the journal JAMA Pediatrics suggests the primary cause of the increase of autism spectrum disorder is actually due to changes in how the disease is diagnosed.

“This study is important because it shows a large part of the increase has nothing to do with the environment, but rather administrative decisions,” says study author Stefan Hansen of Aarhus University in Denmark.

The researchers followed 677,915 Danish children born between 1980 and 1991 and tracked them until they either had an autism diagnosis or reached the study end date of Dec. 31, 2011. Hansen and his team looked specifically at changes that occurred before and after the year 1994, when criteria for psychiatric diagnoses changed in Denmark so that autism became a spectrum of disorders, broadening the criteria for diagnosis. The researchers found significantly more children were diagnosed with autism in 1995 and on, and the team was able to determine that 60% of the increase could be attributed to these criteria changes.

“I am not saying it explains everything,” says Hansen. “There’s the remaining 40%, so we shouldn’t stop here.” That 40% is important if researchers want to understand all the contributing factors to the disease he says.

While Hansen’s findings focused specifically on diagnostic criteria changes in Denmark, other countries, including the U.S., have seen similar changes in the diagnosis of psychological and brain-development disorders.

In May 2013, the American Psychiatric Association published new guidelines for diagnosing autism spectrum disorders in what’s casually referred to as the “psychiatry bible”—the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). Previously, children needed to meet six of 12 criteria points to be diagnosed with one type of autism-related disorder like Asperger’s disorder or childhood disintegrative disorder. Now, the disorders fall under the single category of “autism spectrum disorders,” and the criteria needed for a diagnosis is much more specific.

Some advocacy groups like Autism Speaks were concerned the changes would mean some people wouldn’t get care, with some research suggesting that a small but significant minority of kids diagnosed with autism would not qualify under the new criteria. “Our concern has been that the constricting of the criteria would in fact artificially reduce the prevalence of autism,” says Michael Rosanoff director of public health research at Autism Speaks. “The DSM-5 has not been in play for long enough and there’s ongoing research looking at how prevalence is changing and access to services. Time will really tell.”

Rosanoff and this study’s researcher Hansen agree that more research is needed to understand what other factors may contribute to the rise in autism cases worldwide. In the United States, the Centers for Disease Control and Prevention (CDC) estimates that about one in 68 U.S. kids is on the autism spectrum, which is 30% higher than estimates from as recent as 2012. “Some of this has to do with increasing public awareness,” says Hansen. “As people become more aware of the term autism over time, it’s causing parents to have their kids be examined more often.”

The CDC announced on Jan. 2 that over the next four years, it will invest over $20 million to increase tracking of children with autism spectrum disorder so that the U.S. can better understand what impacts the prevalence of autism here. With better monitoring worldwide, the hope is scientific communities and families affected by autism will better understand more about the disorder’s emergence.

Read next: Most Cancer Is Beyond Your Control, Breakthrough Study Finds

Listen to the most important stories of the day.

TIME Innovation

Five Best Ideas of the Day: December 19

The Aspen Institute is an educational and policy studies organization based in Washington, D.C.

1. America needs a new testament of hope: “Demanding that we trade confusion and bewilderment for a fight for change that only hope and radical optimism can sustain.”

By Darren Walker in Human Parts on Medium

2. Data Integrity Unit: A team of detectives and data analysts is boosting the accuracy of crime statistics in Los Angeles.

By Joel Rubin and Ben Post in the Los Angeles Times

3. This remarkable community gives autistic children a connection inside the world of Minecraft — and might save their lives.

By Charlie Warzel in BuzzFeed

4. Experts are debating whether artificial intelligence is a threat to humanity. It’s very possible that machines with far less intelligence will cause us harm.

By Mark Bishop in New Scientist

5. The Innovative State: Governments should make markets, not just fix them.

By Mariana Mazzucato in Foreign Affairs

The Aspen Institute is an educational and policy studies organization based in Washington, D.C.

TIME Ideas hosts the world's leading voices, providing commentary and expertise on the most compelling events in news, society, and culture. We welcome outside contributions. To submit a piece, email ideas@time.com.

TIME Autism

How Brain Scans Can Diagnose Autism With 97% Accuracy

brain scan fmri mri
Getty Images

Thinking about social interactions reveals brain patterns indicative of autism

Right now, diagnosing disorders like autism relies heavily on interviews and behavioral observations. But new research published in PLoS One shows that a much more objective measure—reading a person’s thoughts through an fMRI brain scan—might be able to diagnose autism with close to perfect accuracy.

Lead study author Marcel Just, PhD, professor of psychology and director of the Center for Cognitive Brain Imaging at Carnegie Mellon University, and his team performed fMRI scans on 17 young adults with high-functioning autism and 17 people without autism while they thought about a range of different social interactions, like “hug,” “humiliate,” “kick” and “adore.” The researchers used machine-learning techniques to measure the activation in 135 tiny pieces of the brain, each the size of a peppercorn, and analyzed how the activation levels formed a pattern. That pattern, Just says, is amazingly similar across people. “When you think about a house or a chair or a banana while you’re in the scanner, I can tell which one you’re thinking about,” he says.

So great was the difference between the two groups that the researchers could identify whether a brain was autistic or neurotypical in 33 out of 34 of the participants—that’s 97% accuracy—just by looking at a certain fMRI activation pattern. “There was an area associated with the representation of self that did not activate in people with autism,” Just says. “When they thought about hugging or adoring or persuading or hating, they thought about it like somebody watching a play or reading a dictionary definition. They didn’t think of it as it applied to them.” This suggests that in autism, the representation of the self is altered, which researchers have known for many years, Just says. “But this is the first time that anybody’s used that to diagnose autism looking at brain activation.”

Just says his research suggests there could be a new way of diagnosing and understanding certain illnesses and disorders. “If you know what kinds of thoughts are typically disordered in a given psychiatric illness, you could ask a person to think about them and see whether their thoughts are disordered or altered from neurotypical people,” he says.

TIME celebrities

Jerry Seinfeld Says He Is Not on the Autism Spectrum After All

Jerry Seinfeld
Jerry Seinfeld pauses as he is interviewed on the red carpet at the Kennedy Center for the Performing Arts for the Mark Twain Prize for American Humor, Oct. 19, 2014, in Washington. Kevin Wolf—AP

"I’m not on the spectrum”

Comedian Jerry Seinfeld has backtracked on recent comments he made stating that he was on the autism spectrum.

In an interview with Access Hollywood, Seinfeld said he does not fall on the spectrum, contrary to an interview with NBC a few weeks prior in which he said he did.

“I don’t have autism, I’m not on the spectrum,” the Comedians in Cars Getting Coffee star said Wednesday. “I was just watching a play about it, and … I related to it on some level.”

The comedian was commended by members of the autism community after he told NBC’s Brian Williams in early November that he might be autistic. “I think in a very drawn-out scale, I think I’m on the spectrum,” he said, adding that he didn’t see being on the spectrum as dysfunctional but merely an “alternative mind-set.”

TIME Autism

Major Autism Studies Identify Dozens of Contributing Genes

Researchers collaborate on two large studies identifying the genetic basis of autism

Two new studies exploring the genetic basis of autism tie mutations in hundreds of genes to the disease.

Several teams of researchers collaborated on the studies, both published in the journal Nature, and found that about 60 of the genes are considered “high confidence,” meaning there’s a 90% chance that mutations within those genes contribute to risk for autism. Both studies show through genomic sequencing that many of these mutations are de novo, meaning that parents do not have the gene mutation, but they present spontaneously just before a child is conceived in either the sperm or egg.

It’s long been believed that autism is genetic, but a lack of large studies and advanced genomic sequencing has precluded any sort of consensus about what genes might be at play. But in the last couple years, scientists have been able to look at the genetic mutations in hundreds of people with autism and identify genes that likely factor into a child’s development of the disorder. In the two new studies, scientists were able to expand their work and look at thousands of people.

In one of the studies, several institutions used data from the Simons Simplex Collection (SSC), which is a collection of DNA samples from 3,000 families. In each of the families, one individual had autism. The researchers compared the gene sequences of the individual with autism to their unaffected family members. After analysis, they estimated that de novo mutations contribute to autism in at least 27% of families, where only one member has the disorder.

The other study, by researchers at 37 different institutions as part of the Autism Sequencing Consortium, looked at 14,000 DNA samples of parents with affected children. It found 33 genes the researchers say definitely increase risk for autism, should there be a mutation.

Even though there may be hundreds or even thousands of genes that contribute to a child’s risk of developing autism, the researchers on both studies found that the mutations appear to converge on a much smaller number of biological functions, like nerve-cell communication or proteins known to cause inherited disability. “In my view, the real importance of these studies is not diagnosis, and it’s not figuring out exactly what percentage of people have de novo mutations, it’s about laying the foundation to transform the understanding of the biological mechanisms of autism,” says Dr. Matthew State, chair of the psychiatry department at University of California, San Francisco and a co-leader of the SSC study, as well as a senior participant on the other study.

State doesn’t believe that the findings will mean that families will one day get their genomes sequenced to spot hundreds of possible mutations. Instead, they could lay the groundwork for discovering how autism develops, and what potential treatments, or even drugs, could help fight it.

TIME Autism

Autistic Kids May Benefit From This Kind of Parent-Led Therapy

Parents can learn how to give effective therapy to their children with autism, a new study in the Journal of Child Psychology and Psychiatry finds.

Researchers at Stanford University looked at a type of therapy called Pivotal Response Training (PRT), which is one the of the handful of treatments shown to be effective for kids on the autism spectrum, says Kari Berquist, PhD, study co-author and a clinical instructor in psychiatry and behavioral sciences and an autism clinician at Lucile Packard Children’s Hospital Stanford. The therapy focuses on improving kids’ motivation language skills by reinforcing their use of language related to the task at hand. One of the advantages is it can be done anywhere: anytime a child attempts to ask for something by name—a toy, say—they’d be rewarded with the item they requested, which reinforces their use of language.

They enrolled a group of parents of 53 autistic children between ages 2-6 in either a PRT course, which taught parents how to do the therapy with their kids, or a psychoeducation group, which taught general autism information. The children joined their parents for several sessions.

Researchers found that after just 12 weeks, 84% of parents were able to learn how to give effective PRT, and the children in the PRT group made significantly more progress than the other group in use of language and how often they were communicating.

“Group models are very new to autism treatment,” says Berquist, but the study shows that they can be effective while also being cheaper and coming with a built-in social support for parents. “I think this really allows us to get more people at once, to give more services at one time.”

TIME Autism

Broccoli-Sprout Compound Could Help With Autism, Study Suggests

The study was "interesting and important" but ultimately too small to make a clear link, one medical researcher said

A broccoli sprout compound may help with behavioral problems in some people with autism, a new study suggests.

Though the short-term study was small and did not see improvements in a third of the participants, it was still “promising” according to the lead researcher, CBS reports.

“This is just one study, and it’s a preliminary study,” said Dr. Kanwaljit Singh from Massachusetts General Hospital for Children.

44 boys and men with autism between the ages of 13 and 27 took part in the study. Some received sulforaphane, a compound found in broccoli and other vegetables that has previously been studied for its health benefits, while others received a placebo.

The compound was chosen because it can help trigger a heat-shock response, a series of biological events that protect cells from stress during fevers; some people with autism have been known to see improvement in regard to repetitive behaviors, for example, during fevers. Around 80 percent of the participants had a history of experiencing the “fever effect.”

Within four weeks of the 18-week study, parents were already seeing improvements in areas of communication, hyperactivity and irritability. Researchers, unaware of which participants were receiving a placebo, noticed similar changes. By week 18, roughly half of the sulforaphane participants had better social interactions, and, four weeks after the study and the sulforaphane stopped, such improvements were less apparent.

The head of medical research for the organization Autism Speaks, Dr. Paul Wang, said the study was “interesting and important” but ultimately too small to tell for sure whether the compound can help with autism treatment.

[CBS]

TIME vaccines

How Words Can Kill in the Vaccine Fight

Farrow: Right ideas, wrong words
Farrow: Right ideas, wrong words NBC/Getty Images

To own the argument you've got to own the language. At the moment, the dangerous anti-vaxxers are winning that war

Chances are you wouldn’t sit down to a plate of sautéed thymus glands, to say nothing of a poached patagonian tooth fish; and the odds are you’d be reluctant to tuck into a monkey peach too. But sweetbreads, Chilean sea bass and kiwifruit? They’re a different matter—except they’re not. All of those scrumptious foods once went by those less scrumptious names—but few people went near them until there was something pleasant to call them. Words have that kind of power.

That’s true in advertising, in politics and in business too. And it’s true when it comes to vaccines as well—but in this case those words can have a lethal power. The bad news is that in the vaccine word game, the good guys (they would be the ones who know that vaccines are safe, effective and save from two to three million lives per year) are being caught flat-footed by the bad guys (those would be the ones whose beliefs are precisely opposite—and therefore precisely wrong).

The battle plays out on Twitter, with the handy—and uninformed—handle #CDCWhistleBlower repeatedly invoked by virtually every fevered anti-vax tweet like a solemn incantation. The term refers to Dr. William Thompson of the Centers for Disease Control and Prevention, who supposedly blew the lid off of the great vaccine conspiracy by confessing to irregularities in a 2004 study that deliberately excluded data suggesting a higher rate of autism in African-American boys who had been vaccinated. Scary stuff alright, except that the study was poorly conducted, the data was left out for purely statistical and methodological reasons, and the paper itself has now been withdrawn. But the hashtag stain remains all the same—with the usually noble whistleblower label being put to low purpose.

Something similar is true with the widely cited Vaccine Injury Court, another frightening term, except that no such thing exists—at least not by that name. It’s true there is an Office of Special Masters which, under a smart 1986 law, hears the claims of parents who believe their children have been injured by vaccines. The panel was created to provide no-fault compensation in all such cases, since drugs that are as vital and are administered as widely as vaccines could never be manufactured or sold affordably if the companies themselves had to pour millions and even billions of dollars into defending themselves against claims.

It’s true too that the court has paid out about $2.8 billion to parents and families since 1989, but those awards are overwhelmingly for relatively minor side effects that are fully disclosed by the ostensibly secretive CDC for any parents caring to look on the agency’s website. And to put that $2.8 billion in perspective: The money went to 3,727 claimants over an approximate generation-long period during which 78 million American children were safely vaccinated, preventing an estimated 322 million illnesses and 732,000 deaths. If you’re crunching the numbers (and it’s not hard to do) that factors out to a .0048% risk of developing what is overwhelmingly likely to be a transient problem—in exchange for a lifetime of immunity from multiple lethal diseases.

But brace for more anyway because October is, yes, Vaccine Injury Awareness Month. Because really, what does a dangerous campaign of misinformation need more than 31 catchily named days devoted to itself?

Still, there’s no denying that catchiness works, and on this one the doctors and other smart folks are going to have to get off the dime. MSNBC’s Ronan Farrow—who either is or isn’t to your liking depending in part on whether MSNBC itself is—has emerged as a smart, persuasive, often brilliantly cutting advocate for the vaccine cause. And on his Oct. 10 show he deftly filleted the arguments of a vocal anti-vax mother whose child is undeniably suffering from a number of illnesses, but who wrong-headedly blames them on vaccines. In this show as in others he invites his audience to learn the truth about vaccines and to connect with him and one another via the handle #VaccineDebate.

And right there he tripped up. For the billionth time (as Farrow knows) there is no debate. Just as there is no climate change debate. Just as there is no moon-landings-were-faked debate. And just as there was nothing to the tobacco company’s disingenuous invention of a “cigarette controversy,” a fallback position they assumed when even they knew that cigarettes were killers and that they couldn’t straight-facedly say otherwise, so the best they could do was sow doubt and hope people stayed hooked.

Little more than 30 seconds spent listening to Farrow talk about vaccines makes it unmistakably clear where he stands—but the very fact that we now live in a hashtag culture means that it’s by no means certain he’s going to get that 30 seconds. So step up your game, smart people. You want to get the vaccine message out, do it in a way that works in the 21st century. And if that means a hashtag, why not #VaccinesWork or #VaccinesAreSafe or #VaccinesSaveLives. Of course, there’s also the more thorough and satisfying #AntivaxxersDon’tKnowWhatThey’reTalkingAboutSoPleaseStopListeningToThem, but that gets you exactly halfway to your 140-character limit. So keep it brief folks—and make it stick.

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